164 related articles for article (PubMed ID: 18723326)
1. Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.
Ochiai T; Nakano H; Rokunohe D; Akasaka E; Toyomaki Y; Mitsuhashi Y; Sawamura D
J Dermatol Sci; 2009 Jan; 53(1):73-5. PubMed ID: 18723326
[No Abstract] [Full Text] [Related]
2. Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
Ullbro C; El-Samadi S; Boumah C; Al-Yousef N; Wakil S; Twetman S; Alfadley A; Thestrup-Pedersen K; Meyer B
Acta Derm Venereol; 2006; 86(1):3-7. PubMed ID: 16585980
[TBL] [Abstract][Full Text] [Related]
3. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C; McCormick D; Linden G; Turk D; Stern I; Wallace I; Southern L; Zhang L; Howard R; Bullon P; Wong M; Widmer R; Gaffar KA; Awawdeh L; Briggs J; Yaghmai R; Jabs EW; Hoeger P; Bleck O; Rüdiger SG; Petersilka G; Battino M; Brett P; Hattab F; Al-Hamed M; Sloan P; Toomes C; Dixon M; James J; Read AP; Thakker N
Hum Mutat; 2004 Mar; 23(3):222-8. PubMed ID: 14974080
[TBL] [Abstract][Full Text] [Related]
4. Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
Nakano A; Nomura K; Nakano H; Ono Y; LaForgia S; Pulkkinen L; Hashimoto I; Uitto J
J Invest Dermatol; 2001 Feb; 116(2):339-43. PubMed ID: 11180012
[TBL] [Abstract][Full Text] [Related]
5. Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
Zhang Y; Hart PS; Moretti AJ; Bouwsma OJ; Fisher EM; Dudlicek L; Pettenati MJ; Hart TC
Hum Mutat; 2002 Jul; 20(1):75. PubMed ID: 12112662
[TBL] [Abstract][Full Text] [Related]
6. Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement.
Castori M; Madonna S; Giannetti L; Floriddia G; Milioto M; Amato S; Castiglia D
Br J Dermatol; 2009 Apr; 160(4):881-3. PubMed ID: 18945301
[No Abstract] [Full Text] [Related]
7. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
de Haar SF; Jansen DC; Schoenmaker T; De Vree H; Everts V; Beertsen W
Hum Mutat; 2004 May; 23(5):524. PubMed ID: 15108292
[TBL] [Abstract][Full Text] [Related]
8. Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
Allende LM; García-Pérez MA; Moreno A; Corell A; Carasol M; Martínez-Canut P; Arnaiz-Villena A
Hum Mutat; 2001 Feb; 17(2):152-3. PubMed ID: 11180601
[TBL] [Abstract][Full Text] [Related]
9. A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
Cury VF; Gomez RS; Costa JE; Friedman E; Boson W; De Marco L
Br J Dermatol; 2005 Feb; 152(2):353-6. PubMed ID: 15727652
[TBL] [Abstract][Full Text] [Related]
10. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
Lefèvre C; Blanchet-Bardon C; Jobard F; Bouadjar B; Stalder JF; Cure S; Hoffmann A; Prud'Homme JF; Fischer J
J Invest Dermatol; 2001 Dec; 117(6):1657-61. PubMed ID: 11886537
[TBL] [Abstract][Full Text] [Related]
11. [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P; Farkas K; Tripolszki K; Sulák A; Széll M; Nagy N; Nagy K
Fogorv Sz; 2014 Sep; 107(3):87-92. PubMed ID: 25509509
[TBL] [Abstract][Full Text] [Related]
12. Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.
Noack B; Görgens H; Schacher B; Puklo M; Eickholz P; Hoffmann T; Schackert HK
J Clin Periodontol; 2008 Apr; 35(4):311-6. PubMed ID: 18294227
[TBL] [Abstract][Full Text] [Related]
13. Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.
de Haar SF; Mir M; Nguyen M; Kazemi B; Ramezani GH; Everts V; Beertsen W
Hum Genet; 2005 May; 116(6):545. PubMed ID: 15991336
[No Abstract] [Full Text] [Related]
14. Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
Nakajima K; Nakano H; Takiyoshi N; Rokunohe A; Ikenaga S; Aizu T; Kaneko T; Mitsuhashi Y; Sawamura D
Dermatology; 2008; 217(1):58-62. PubMed ID: 18401176
[TBL] [Abstract][Full Text] [Related]
15. Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.
Wani AA; Devkar N; Patole MS; Shouche YS
J Periodontol; 2006 Feb; 77(2):233-7. PubMed ID: 16460249
[TBL] [Abstract][Full Text] [Related]
16. Papillon-Lefèvre syndrome and malignant melanoma.
Cook GP
Dermatology; 2009; 219(2):187-8. PubMed ID: 19506350
[No Abstract] [Full Text] [Related]
17. Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.
Nusier M; Zhang Y; Yassin O; Hart TC; Hart PS
Mol Genet Metab; 2002 Mar; 75(3):280-3. PubMed ID: 11914041
[TBL] [Abstract][Full Text] [Related]
18. Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.
Rai R; Thiagarajan S; Mohandas S; Natarajan K; Shanmuga Sekar C; Ramalingam S
Int J Dermatol; 2010 May; 49(5):541-3. PubMed ID: 20534088
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.
Cury VF; Costa JE; Gomez RS; Boson WL; Loures CG; De ML
J Periodontol; 2002 Mar; 73(3):307-12. PubMed ID: 11922261
[TBL] [Abstract][Full Text] [Related]
20. Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.
Kosem R; Debeljak M; Repič Lampret B; Kansky A; Battelino T; Trebušak Podkrajšek K
Dermatology; 2012; 225(3):193-203. PubMed ID: 23108224
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
